gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03776334 (NFE)
Genomes Max Group AF
0.03776334 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76727669A>G , CM000667.2:g.76727669A>G | GRCh38 |
| NC_000005.9:g.76023494A>G , CM000667.1:g.76023494A>G | GRCh37 |
| NC_000005.8:g.76059250A>G | NCBI36 |
| NG_032906.1:g.16627A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319211.5:c.89-4645A>G MANE Select | ENSP00000321326.4:n.89-4645A>G | |
| ENST00000319211.4:c.89-4645A>G | ENSP00000321326.4:n.89-4645A>G | |
| NM_001311313.1:c.-397-1043A>G | NP_001298242.1:n.-397-1043A>G | |
| NM_001992.3:c.89-4645A>G | NP_001983.2:n.89-4645A>G | |
| NM_001992.4:c.89-4645A>G | NP_001983.2:n.89-4645A>G | |
| NM_001992.5:c.89-4645A>G MANE Select | NP_001983.2:n.89-4645A>G | |
| NM_001311313.2:c.-397-1043A>G | NP_001298242.1:n.-397-1043A>G |